Incidental Mutation 'R0008:Rbm45'
ID 58191
Institutional Source Beutler Lab
Gene Symbol Rbm45
Ensembl Gene ENSMUSG00000042369
Gene Name RNA binding motif protein 45
Synonyms G430095G15Rik, Drb1, Drbp1
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R0008 (G1)
Quality Score 224
Status Validated
Chromosome 2
Chromosomal Location 76200328-76214112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76208742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 293 (Y293H)
Ref Sequence ENSEMBL: ENSMUSP00000040420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046389]
AlphaFold Q8BHN5
Predicted Effect probably damaging
Transcript: ENSMUST00000046389
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: Y293H

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
RRM 27 102 2.08e-12 SMART
RRM 122 191 1.37e-12 SMART
RRM 249 320 2.27e-1 SMART
RRM 394 460 4.07e-6 SMART
Meta Mutation Damage Score 0.9329 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (109/111)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Adtrp T C 13: 41,920,941 (GRCm39) T88A probably damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Apoe G A 7: 19,431,005 (GRCm39) T79M probably damaging Het
Arrdc3 T A 13: 81,032,011 (GRCm39) Y81* probably null Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Asah2 T A 19: 31,981,131 (GRCm39) K629* probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
C130074G19Rik A G 1: 184,615,119 (GRCm39) S24P probably benign Het
C87436 A G 6: 86,423,265 (GRCm39) probably benign Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Clcn2 T C 16: 20,529,140 (GRCm39) N367S probably null Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Commd6 G A 14: 101,877,709 (GRCm39) probably benign Het
Cox6a2 G A 7: 127,805,212 (GRCm39) probably benign Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Eng T C 2: 32,567,692 (GRCm39) V110A probably damaging Het
Esyt3 T C 9: 99,220,860 (GRCm39) I114M possibly damaging Het
Fam83h A T 15: 75,875,811 (GRCm39) Y509N probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Fbxo21 A G 5: 118,146,078 (GRCm39) N567S possibly damaging Het
Fcsk T C 8: 111,610,865 (GRCm39) probably benign Het
Fn1 A T 1: 71,634,879 (GRCm39) L1964Q probably damaging Het
Gorasp1 G T 9: 119,757,312 (GRCm39) S353R possibly damaging Het
Grk2 C T 19: 4,337,262 (GRCm39) E646K probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Igf2bp2 T C 16: 21,894,841 (GRCm39) T301A probably benign Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Kdm2b G A 5: 123,019,806 (GRCm39) S738L probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mapk15 G A 15: 75,870,103 (GRCm39) E408K probably benign Het
Mdn1 T A 4: 32,718,317 (GRCm39) F2191I possibly damaging Het
Metrn C A 17: 26,015,479 (GRCm39) V79F possibly damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Myo3a T A 2: 22,469,753 (GRCm39) I508N probably damaging Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Ncapg2 T C 12: 116,393,455 (GRCm39) F553S probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Or2d3b A G 7: 106,514,226 (GRCm39) I274V probably benign Het
Or2t6 T A 14: 14,176,092 (GRCm38) probably benign Het
Or4a78 T A 2: 89,497,428 (GRCm39) K267N probably damaging Het
Or52e3 A T 7: 102,869,558 (GRCm39) D211V probably damaging Het
Or52e3 G A 7: 102,869,584 (GRCm39) A220T probably benign Het
Or5b122 A G 19: 13,563,240 (GRCm39) I191V probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdlim4 C T 11: 53,945,875 (GRCm39) V327M probably damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prdm1 C T 10: 44,317,675 (GRCm39) E398K probably damaging Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Prkdc T A 16: 15,526,565 (GRCm39) probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Ptk7 G A 17: 46,883,688 (GRCm39) probably benign Het
Rnf213 A C 11: 119,355,878 (GRCm39) E4108A possibly damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Sec24d C A 3: 123,144,525 (GRCm39) probably benign Het
Sh2d3c C G 2: 32,643,033 (GRCm39) H587D probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Slc46a2 T A 4: 59,914,544 (GRCm39) L126F probably damaging Het
Slc4a8 T C 15: 100,698,374 (GRCm39) M621T possibly damaging Het
Slc9b2 T A 3: 135,042,269 (GRCm39) V516D possibly damaging Het
Slco1a6 T A 6: 142,102,948 (GRCm39) probably benign Het
Sncg C T 14: 34,096,495 (GRCm39) V15I probably benign Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Stk10 T A 11: 32,537,305 (GRCm39) probably benign Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp1 C T 12: 99,921,217 (GRCm39) probably benign Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tgfbi T A 13: 56,777,587 (GRCm39) I357N probably benign Het
Tmem116 A G 5: 121,633,159 (GRCm39) T178A probably damaging Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Top2a A T 11: 98,893,729 (GRCm39) L1055* probably null Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Trpv2 A G 11: 62,481,086 (GRCm39) Y395C probably damaging Het
Ubn2 T A 6: 38,411,535 (GRCm39) probably null Het
Ubr4 C T 4: 139,157,487 (GRCm39) T2348M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r33 C A 6: 66,589,510 (GRCm39) G15* probably null Het
Vmn1r37 T A 6: 66,708,769 (GRCm39) S95T probably benign Het
Vmn2r57 A G 7: 41,050,076 (GRCm39) C558R probably damaging Het
Vnn1 T C 10: 23,774,500 (GRCm39) probably null Het
Vps13c T C 9: 67,826,544 (GRCm39) V1395A probably benign Het
Vwa7 A G 17: 35,238,781 (GRCm39) I290V probably benign Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfp942 A T 17: 22,147,319 (GRCm39) C437S probably damaging Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V possibly damaging Het
Other mutations in Rbm45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Rbm45 APN 2 76,209,051 (GRCm39) missense probably damaging 1.00
IGL03335:Rbm45 APN 2 76,206,777 (GRCm39) missense probably damaging 1.00
R0008:Rbm45 UTSW 2 76,208,742 (GRCm39) missense probably damaging 1.00
R0382:Rbm45 UTSW 2 76,200,555 (GRCm39) missense possibly damaging 0.92
R1468:Rbm45 UTSW 2 76,202,459 (GRCm39) missense probably damaging 1.00
R1468:Rbm45 UTSW 2 76,202,459 (GRCm39) missense probably damaging 1.00
R1533:Rbm45 UTSW 2 76,202,503 (GRCm39) critical splice donor site probably null
R1942:Rbm45 UTSW 2 76,205,823 (GRCm39) critical splice donor site probably null
R2046:Rbm45 UTSW 2 76,205,742 (GRCm39) missense probably benign
R2912:Rbm45 UTSW 2 76,205,798 (GRCm39) missense probably benign 0.05
R2913:Rbm45 UTSW 2 76,205,798 (GRCm39) missense probably benign 0.05
R2929:Rbm45 UTSW 2 76,208,763 (GRCm39) missense probably benign 0.00
R3418:Rbm45 UTSW 2 76,209,362 (GRCm39) missense probably damaging 1.00
R3886:Rbm45 UTSW 2 76,205,768 (GRCm39) missense probably benign
R3887:Rbm45 UTSW 2 76,205,768 (GRCm39) missense probably benign
R3888:Rbm45 UTSW 2 76,205,768 (GRCm39) missense probably benign
R4488:Rbm45 UTSW 2 76,206,740 (GRCm39) missense probably damaging 0.99
R5369:Rbm45 UTSW 2 76,200,594 (GRCm39) missense probably damaging 1.00
R5990:Rbm45 UTSW 2 76,200,756 (GRCm39) missense probably benign 0.36
R6569:Rbm45 UTSW 2 76,209,416 (GRCm39) missense probably damaging 1.00
R6806:Rbm45 UTSW 2 76,210,804 (GRCm39) missense probably benign 0.19
R7022:Rbm45 UTSW 2 76,206,738 (GRCm39) missense probably damaging 1.00
R7832:Rbm45 UTSW 2 76,206,797 (GRCm39) missense possibly damaging 0.80
R8720:Rbm45 UTSW 2 76,210,711 (GRCm39) missense probably damaging 1.00
R8933:Rbm45 UTSW 2 76,209,068 (GRCm39) missense probably damaging 1.00
R9064:Rbm45 UTSW 2 76,202,446 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACGGGCAACGTTTCTGATTTTCATAC -3'
(R):5'- CGCGGTTTGACTTGGGCCAC -3'

Sequencing Primer
(F):5'- gctcacacctgtctgtaactc -3'
(R):5'- GCCACCCTGGAATGGTACTTAC -3'
Posted On 2013-07-11